Is MED13L-related intellectual disability a recognizable syndrome?

Autor: Marcella Zollino, Bernt Popp, Charlotte Brasch-Andersen, Jakob Ek, Giuseppe Marangi, Lotte Nylandsted Krogh, Laura Roos, Pernille Mathiesen Tørring, Tina Duelund Hjortshøj, Lone W. Laulund, Niels Ove Illum, Maria Kibaek, Naja Becher, Ulrike Dunkhase-Heinl, Christina Fagerberg, Antje Wiesener, Ida Vogel, Martin Jakob Larsen

Publikováno v: Tørring, P M, Larsen, M J, Brasch-Andersen, C, Krogh, L N, Kibæk, M, Laulund, L, Illum, N, Dunkhase-Heinl, U, Wiesener, A, Popp, B, Marangi, G, Hjortshøj, T D, Ek, J, Vogel, I, Becher, N, Roos, L, Zollino, M & Fagerberg, C R 2019, ' Is MED13L-related intellectual disability a recognizable syndrome? ', European Journal of Medical Genetics, vol. 62, no. 2, pp. 129-136 . https://doi.org/10.1016/j.ejmg.2018.06.014

INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the litera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df02d1ca3067d0aa615905c15a68fdc2
https://doi.org/10.1016/j.ejmg.2018.06.014

Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients

Autor: Nathalie Besuchet Schmutz, Stylianos E. Antonarakis, Frédérique Béna, Danielle Martinet, Marie-Claude Addor, Armand Bottani, Sophie Dahoun, Jacques S. Beckmann, Isabel Filges, Michael A. Morris, Gaide Ac

Publikováno v: American Journal of Medical Genetics. A, Vol. 146A, No 16 (2008) pp. 2094-2102

We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe5c871d454b1545f025a352023c34b
https://doi.org/10.1002/ajmg.a.32414

Further delineation of the KAT6B molecular and phenotypic spectrum

Autor: DDD study, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill

Publikováno v: European Journal of Human Genetics, 23(9), 1165-1170
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2015, 23 (9), pp.1165--1170. 〈10.1038/ejhg.2014.248〉
European Journal of Human Genetics, 23(9), 1165-1170. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics, Vol. 23, no. 9, p. 1165-1170 (2015)
European Journal of Human Genetics, 2015, 23 (9), pp.1165--1170. ⟨10.1038/ejhg.2014.248⟩
European Journal of Human Genetics : Ejhg, vol. 23, no. 9, pp. 1165-1170

International audience; KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bf0e66d65c9ab48797e8d72e517dd8
https://www.ncbi.nlm.nih.gov/pubmed/25424711

The phenotype of Floating-Harbor syndrome

Autor: Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot

Publikováno v: Orphanet Journal of Rare Diseases, 8. BioMed Central Ltd.
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63

Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8020c2947f5f65e481e8e6f61976743b
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

Autor: Driess, S., Freese, K., Bornholdt, D., Kobelt, A., Kress, W., Mortier, G., Radhakrishna, U., Antonarakis, Stylianos, Rauch, A., Suri, M., Verheij, J. B., Woerle, H., Grzeschik, K. H., Kalff-Suske, M.

Publikováno v: Human Genetics, Vol. 112, No 1 (2003) P. 103

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e714e7ea4e9240e8c9e508222e2863eb
https://pubmed.ncbi.nlm.nih.gov/12575660